ArticleGenome biology2018
Exploring the genetic basis of human population differences in DNA methylation and their causal impact on immune gene regulation.
Article in Genome biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers.
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Who cites it
80 citing papers in PubMed, 159 citations in OpenAlex.
- Global DNA methylation and hypertension control Vis-À-Vis lipids: an exploratory population based study from rural Punjab, India.Journal of human hypertension · 2026Article
- Population epigenetics: deciphering DNA methylation diversity and its implications for health, disease, and evolution.Molecular biology and evolution · 2026Review
- eQTM (expression quantitative trait methylation) Atlas: a comprehensive resource of over 11 million DNA methylation-gene expression associations through across 11 tissues and 4 diseases.bioRxiv : the preprint server for biology · 2026Article
- cyberDMR: accurate and robust identification of differentially methylated regions from WGS-derived methylomes.BMC biology · 2026Article
- DNA methylation in the placenta and household socioeconomic status: the SPAH study.Clinical epigenetics · 2026Article
- Estimating population structure using epigenome-wide methylation data.Briefings in bioinformatics · 2026Article
- Reducing demographic bias in biomedical machine learning for cancer detection using cfDNA methylation.Genome biology · 2026Article
- Genetic regulation of methylation across East Asian and European populations.Nature communications · 2026Article
- Common DNA sequence variation influences epigenetic aging in African populations.Communications biology · 2025Article
- Distinct Co-methylation Patterns in African and European Populations and Their Genetic Associations.Genomics, proteomics & bioinformatics · 2025Article
- Estimating population structure using epigenome-wide methylation data.medRxiv : the preprint server for health sciences · 2025Article
- Genetic Architecture of Immune Cell DNA Methylation in the Rhesus Macaque.Molecular ecology · 2025Article
- Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans.Epigenetics & chromatin · 2025Article
- Subtyping Burkitt Lymphoma by DNA Methylation.Genes, chromosomes & cancer · 2025Article
- Article
- Ancestry gaps in cardiovascular GWAS: a multi-database review of African representation in genomic studies.Frontiers in genetics · 2025Review
- Review
- Sensitivity of renal cell carcinoma to cuproptosis: a bioinformatics analysis and experimental verification.Journal of Cancer · 2025Article
- Identification and functional characterisation of DNA methylation differences between East- and West-originating Finns.Epigenetics · 2024Article
- The Research Progress of DNA Methylation in the Development and Function of the Porcine Placenta.International journal of molecular sciences · 2024Review
20 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundDNA methylation is influenced by both environmental and genetic factors and is increasingly thought to affect variation in complex traits and diseases. Yet, the extent of ancestry-related differences in DNA methylation, their genetic determinants, and their respective causal impact on immune gene regulation remain elusive.
resultsWe report extensive population differences in DNA methylation between 156 individuals of African and European descent, detected in primary monocytes that are used as a model of a major innate immunity cell type. Most of these differences (~ 70%) are driven by DNA sequence variants nearby CpG sites, which account for ~ 60% of the variance in DNA methylation. We also identify several master regulators of DNA methylation variation in trans, including a regulatory hub nearby the transcription factor-encoding CTCF gene, which contributes markedly to ancestry-related differences in DNA methylation. Furthermore, we establish that variation in DNA methylation is associated with varying gene expression levels following mostly, but not exclusively, a canonical model of negative associations, particularly in enhancer regions. Specifically, we find that DNA methylation highly correlates with transcriptional activity of 811 and 230 genes, at the basal state and upon immune stimulation, respectively. Finally, using a Bayesian approach, we estimate causal mediation effects of DNA methylation on gene expression in ~ 20% of the studied cases, indicating that DNA methylation can play an active role in immune gene regulation.
conclusionUsing a system-level approach, our study reveals substantial ancestry-related differences in DNA methylation and provides evidence for their causal impact on immune gene regulation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.